Diagnostic performance of PAX1 methylation as a biomarker for cervical lesions: a clinical study and meta-analysis

To evaluate the diagnostic performance of PAX1 gene methylation in the detection of cervical lesions and assess its potential clinical application in cervical cancer screening through both a single-centre study and a meta-analysis.

A retrospective analysis was conducted on 329 patients who underwent concurrent ThinPrep cytologic test (TCT), high-risk HPV testing and PAX1 methylation analysis at the Affiliated Hospital of Jining Medical University. The diagnostic accuracy of PAX1 methylation for detecting high-grade squamous intraepithelial lesions (HSIL) and cervical squamous cell carcinoma (CSCC) was assessed. Additionally, we performed a systematic review and meta-analysis, which included seven eligible studies from Asian populations. Pooled diagnostic metrics were calculated using a bivariate mixed-effects model. Heterogeneity and publication bias were evaluated using Cochran's Q test, I² statistics and Deeks' funnel plot asymmetry test.

PAX1 methylation values declined with increasing severity of cervical lesions. In clinical samples, the sensitivity and specificity for detecting CSCC were 81.3% and 94.2%, respectively. Meta-analysis yielded a pooled sensitivity of 0.87 (95% CI: 0.79-0.92), specificity of 0.75 (95% CI: 0.52-0.89) and an area under the curve (AUC) of 0.89. The diagnostic odds ratio was 20, indicating strong discriminatory performance.

PAX1 methylation demonstrates high diagnostic accuracy for cervical cancer and is a promising noninvasive biomarker for screening and triage. Further studies are needed to validate its clinical utility in diverse populations and to explore its potential role in monitoring lesion progression or regression, particularly in women managed with conservative approaches.